Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Baiap3'

60602

Institutional Source

Beutler Lab

Gene Symbol

Baiap3

Ensembl Gene

ENSMUSG00000047507

Gene Name

BAI1-associated protein 3

Synonyms

LOC381076

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0090 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

25242659-25256364 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 25250070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000169109

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	857	868	N/A	INTRINSIC
Pfam:Membr_traf_MHD	896	958	8e-10	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175461

Predicted Effect

probably benign
Transcript: ENSMUST00000182056

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
Pfam:Membr_traf_MHD	851	959	3.3e-30	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182435

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	131	300	4.73e-17	SMART
low complexity region	333	351	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Membr_traf_MHD	823	931	3.2e-30	PFAM
C2	961	1069	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182825

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	284	4.05e-16	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	461	473	N/A	INTRINSIC
low complexity region	656	668	N/A	INTRINSIC
Pfam:Membr_traf_MHD	815	923	3.2e-30	PFAM
C2	953	1061	7.06e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182978

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but exhibit increased PTZ-induced seizure propensity, as well as increased novelty-induced anxiety in both genders, with a more pronounced effect in females, and a faster developmentof tolerance to benzodiazepines in male mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159		probably benign	Het
4933427I04Rik	A	G	4: 123,860,982	T230A	possibly damaging	Het
9230110C19Rik	T	A	9: 8,027,183	N118I	probably benign	Het
Acsm1	T	C	7: 119,662,189		probably benign	Het
Acta1	T	C	8: 123,893,657	N14S	probably damaging	Het
Aff4	A	G	11: 53,392,782	T362A	probably benign	Het
Aggf1	A	G	13: 95,364,959	I305T	probably benign	Het
Ap4b1	A	G	3: 103,820,429	D325G	possibly damaging	Het
Ap4e1	C	T	2: 127,064,985	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,639,348	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,075,110	F122L	probably damaging	Het
Casp8ap2	T	A	4: 32,640,327	H460Q	probably damaging	Het
Casz1	A	G	4: 148,933,411	T386A	probably benign	Het
Cd53	A	T	3: 106,767,409	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,393,327		probably benign	Het
Chaf1b	G	T	16: 93,887,124	A88S	possibly damaging	Het
Cldn10	A	T	14: 118,874,200	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,095,218		probably null	Het
Cmpk2	A	T	12: 26,478,022	T413S	probably benign	Het
Col9a1	T	A	1: 24,223,562		probably null	Het
Dchs1	G	T	7: 105,755,932	Q2468K	probably benign	Het
Ddx60	A	G	8: 61,942,293	D88G	probably damaging	Het
Dnah8	A	G	17: 30,784,090	R3588G	probably benign	Het
Ect2	T	C	3: 27,115,476	T774A	probably benign	Het
Ect2	C	T	3: 27,138,502	E431K	probably null	Het
Ern1	A	G	11: 106,405,823	V767A	probably damaging	Het
Fbln1	A	C	15: 85,224,288	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,261,987	R132*	probably null	Het
Folh1	T	C	7: 86,725,868		probably benign	Het
Gdf15	A	T	8: 70,629,684	H257Q	probably damaging	Het
Ghitm	T	C	14: 37,122,219	T322A	probably benign	Het
Gm13212	A	T	4: 145,622,625	K211*	probably null	Het
Gm5709	A	G	3: 59,618,771		noncoding transcript	Het
Hbb-y	C	T	7: 103,852,743		probably null	Het
Hmcn2	A	T	2: 31,426,198	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,799,509	D627G	probably benign	Het
Idh2	T	C	7: 80,097,914	E286G	probably damaging	Het
Idh3b	C	A	2: 130,280,979	A297S	probably benign	Het
Igsf3	A	G	3: 101,435,652	E535G	probably damaging	Het
Ilf3	T	A	9: 21,395,414	D314E	probably damaging	Het
Itgb8	A	G	12: 119,202,563	S78P	probably benign	Het
Itih5	G	A	2: 10,164,684	V31I	probably benign	Het
Kcnj2	T	C	11: 111,073,027	V415A	probably benign	Het
Kin	A	G	2: 10,085,773	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,947,837	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,780,486		probably benign	Het
Ltbr	T	C	6: 125,309,449		probably benign	Het
Mgat4a	G	A	1: 37,490,333	T146I	probably damaging	Het
Mrps2	G	C	2: 28,468,256	W19C	probably damaging	Het
Mthfs	T	C	9: 89,211,291	S33P	probably damaging	Het
Myh6	T	C	14: 54,958,704	D546G	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,727,267	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,240,034	E616G	probably damaging	Het
Nrde2	T	C	12: 100,129,286		probably benign	Het
Nup210l	G	A	3: 90,211,779	V1832I	probably benign	Het
Olfr1283	A	T	2: 111,369,294	I221F	probably damaging	Het
Olfr376	G	A	11: 73,375,576	V276I	probably benign	Het
Pcm1	A	T	8: 41,256,041	E9D	probably damaging	Het
Pear1	A	T	3: 87,754,342	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063		probably benign	Het
Prss1	G	A	6: 41,461,232	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,569,503	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,498,461	D149G	probably damaging	Het
Reg3d	A	T	6: 78,378,483	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Sacs	T	A	14: 61,205,440	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,464,925	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,158,728	E324G	probably damaging	Het
Smgc	T	C	15: 91,859,762	V574A	possibly damaging	Het
Stac3	C	T	10: 127,503,930		probably benign	Het
Supv3l1	A	G	10: 62,429,706	L685P	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tas2r125	G	T	6: 132,910,398	A250S	probably benign	Het
Tdrd6	C	T	17: 43,628,241	V639I	probably benign	Het
Thap12	T	G	7: 98,715,893	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410	I217V	probably benign	Het
Trip12	T	A	1: 84,732,136		probably benign	Het
Tshz3	T	C	7: 36,768,892	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826	S347P	probably damaging	Het
Usp10	C	T	8: 119,953,196	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,754,876	I36V	probably benign	Het
Vps37a	T	C	8: 40,526,989	I63T	possibly damaging	Het
Whrn	C	A	4: 63,432,732	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,570,217	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,029,040		probably benign	Het
Zfhx3	G	A	8: 108,950,057	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,243,625	N637S	probably damaging	Het
Zyg11a	A	T	4: 108,201,347		probably benign	Het

Other mutations in Baiap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Baiap3	APN	17	25244328	missense	probably damaging	1.00
IGL00486:Baiap3	APN	17	25248377	splice site	probably benign
IGL00820:Baiap3	APN	17	25248690	missense	probably benign	0.20
IGL01443:Baiap3	APN	17	25245147	missense	possibly damaging	0.92
IGL02282:Baiap3	APN	17	25249377	missense	probably benign	0.11
IGL02341:Baiap3	APN	17	25248316	missense	possibly damaging	0.52
IGL02669:Baiap3	APN	17	25244348	missense	probably damaging	1.00
IGL02863:Baiap3	APN	17	25244502	splice site	probably benign
IGL02993:Baiap3	APN	17	25250082	critical splice donor site	probably null
R0021:Baiap3	UTSW	17	25243669	missense	probably damaging	1.00
R0276:Baiap3	UTSW	17	25243687	missense	probably damaging	1.00
R0488:Baiap3	UTSW	17	25248470	critical splice donor site	probably null
R0826:Baiap3	UTSW	17	25245229	missense	possibly damaging	0.89
R0883:Baiap3	UTSW	17	25249101	missense	probably damaging	1.00
R1700:Baiap3	UTSW	17	25249328	missense	probably damaging	1.00
R1702:Baiap3	UTSW	17	25244805	missense	probably damaging	1.00
R2336:Baiap3	UTSW	17	25250404	missense	probably damaging	1.00
R2762:Baiap3	UTSW	17	25244575	missense	probably damaging	1.00
R4454:Baiap3	UTSW	17	25249536	missense	probably damaging	1.00
R4540:Baiap3	UTSW	17	25246670	missense	probably damaging	1.00
R4609:Baiap3	UTSW	17	25250261	missense	probably damaging	1.00
R4816:Baiap3	UTSW	17	25247295	splice site	probably benign
R4979:Baiap3	UTSW	17	25246362	missense	possibly damaging	0.57
R5069:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5070:Baiap3	UTSW	17	25249108	missense	probably damaging	0.99
R5093:Baiap3	UTSW	17	25250269	missense	probably damaging	1.00
R5130:Baiap3	UTSW	17	25245342	missense	probably benign	0.01
R5566:Baiap3	UTSW	17	25251733	missense	probably damaging	1.00
R5572:Baiap3	UTSW	17	25251475	missense	possibly damaging	0.86
R5681:Baiap3	UTSW	17	25249373	missense	probably damaging	1.00
R5730:Baiap3	UTSW	17	25247524	missense	probably benign	0.01
R5743:Baiap3	UTSW	17	25244785	missense	probably benign	0.02
R5805:Baiap3	UTSW	17	25247515	missense	probably benign	0.12
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6038:Baiap3	UTSW	17	25246334	missense	probably damaging	1.00
R6052:Baiap3	UTSW	17	25248470	critical splice donor site	probably benign
R6238:Baiap3	UTSW	17	25245758	missense	probably benign	0.00
R6700:Baiap3	UTSW	17	25244026	missense	probably damaging	1.00
R7037:Baiap3	UTSW	17	25243840	missense	probably benign
R7038:Baiap3	UTSW	17	25243840	missense	probably benign
R7039:Baiap3	UTSW	17	25243840	missense	probably benign
R7126:Baiap3	UTSW	17	25245145	missense	possibly damaging	0.64
R7198:Baiap3	UTSW	17	25243840	missense	probably benign
R7223:Baiap3	UTSW	17	25243840	missense	probably benign
R7291:Baiap3	UTSW	17	25244317	missense	probably damaging	1.00
R7438:Baiap3	UTSW	17	25249108	missense	possibly damaging	0.91
R7687:Baiap3	UTSW	17	25249337	missense	possibly damaging	0.88
R7877:Baiap3	UTSW	17	25251138	missense	probably damaging	0.99
R8172:Baiap3	UTSW	17	25244122	missense	probably damaging	1.00
R8184:Baiap3	UTSW	17	25248525	missense	probably benign	0.00
R8230:Baiap3	UTSW	17	25246853	missense	probably benign	0.00
R8240:Baiap3	UTSW	17	25245314	critical splice donor site	probably null
R8394:Baiap3	UTSW	17	25250122	missense	probably benign
R8972:Baiap3	UTSW	17	25247036	missense	probably benign	0.04
R9274:Baiap3	UTSW	17	25244380	missense	probably damaging	0.96
R9333:Baiap3	UTSW	17	25248702	missense	possibly damaging	0.54
R9388:Baiap3	UTSW	17	25247135	critical splice donor site	probably null
X0017:Baiap3	UTSW	17	25248350	missense	possibly damaging	0.92
Z1176:Baiap3	UTSW	17	25244768	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- GTCCAAGAGCAACATGTAGTAGCCG -3'
(R):5'- GCTCCATTTCAGGCTTCAGTGACC -3'

Sequencing Primer
(F):5'- acatcctaactttctacctgctac -3'
(R):5'- AGTGACCCGTACTGTATGCTG -3'

Posted On

2013-07-24